Cordani Ramona, Tobaldini Eleonora, Rodrigues Gabriel Dias, Giambersio Donatella, Veneruso Marco, Chiarella Lorenzo, Disma Nicola, De Grandis Elisa, Toschi-Dias Edgar, Furlan Ludovico, Carandina Angelica, Prato Giulia, Nobili Lino, Montano Nicola
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
Unit for Research & Innovation in Anesthesia, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Front Neurosci. 2023 Mar 20;17:1048278. doi: 10.3389/fnins.2023.1048278. eCollection 2023.
Rett syndrome (RTT) is a rare and severe neurological disorder mainly affecting females, usually linked to methyl-CpG-binding protein 2 (MECP2) gene mutations. Manifestations of RTT typically include loss of purposeful hand skills, gait and motor abnormalities, loss of spoken language, stereotypic hand movements, epilepsy, and autonomic dysfunction. Patients with RTT have a higher incidence of sudden death than the general population. Literature data indicate an uncoupling between measures of breathing and heart rate control that could offer insight into the mechanisms that lead to greater vulnerability to sudden death. Understanding the neural mechanisms of autonomic dysfunction and its correlation with sudden death is essential for patient care. Experimental evidence for increased sympathetic or reduced vagal modulation to the heart has spurred efforts to develop quantitative markers of cardiac autonomic profile. Heart rate variability (HRV) has emerged as a valuable non-invasive test to estimate the modulation of sympathetic and parasympathetic branches of the autonomic nervous system (ANS) to the heart. This review aims to provide an overview of the current knowledge on autonomic dysfunction and, in particular, to assess whether HRV parameters can help unravel patterns of cardiac autonomic dysregulation in patients with RTT. Literature data show reduced global HRV (total spectral power and R-R mean) and a shifted sympatho-vagal balance toward sympathetic predominance and vagal withdrawal in patients with RTT compared to controls. In addition, correlations between HRV and genotype and phenotype features or neurochemical changes were investigated. The data reported in this review suggest an important impairment in sympatho-vagal balance, supporting possible future research scenarios, targeting ANS.
雷特综合征（RTT）是一种罕见且严重的神经疾病，主要影响女性，通常与甲基CpG结合蛋白2（MECP2）基因突变有关。RTT的表现通常包括目的性手部技能丧失、步态和运动异常、语言能力丧失、刻板手部动作、癫痫和自主神经功能障碍。RTT患者的猝死发生率高于普通人群。文献数据表明，呼吸和心率控制指标之间存在解耦，这可能有助于深入了解导致猝死易感性增加的机制。了解自主神经功能障碍的神经机制及其与猝死的相关性对于患者护理至关重要。交感神经对心脏的调节增加或迷走神经对心脏的调节减少的实验证据促使人们努力开发心脏自主神经特征的定量标志物。心率变异性（HRV）已成为一种有价值的非侵入性测试，用于评估自主神经系统（ANS）的交感和副交感分支对心脏的调节。本综述旨在概述目前关于自主神经功能障碍的知识，特别是评估HRV参数是否有助于揭示RTT患者心脏自主神经调节异常的模式。文献数据显示，与对照组相比，RTT患者的整体HRV（总频谱功率和R-R均值）降低，交感-迷走神经平衡向交感神经占优势和迷走神经退缩方向转变。此外，还研究了HRV与基因型、表型特征或神经化学变化之间的相关性。本综述报道的数据表明交感-迷走神经平衡存在重要损害，支持未来可能针对ANS的研究方案。
